Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations

Extracranial arteriovenous malformation (AVM) is most commonly caused by a somatic mutation in MAP2K1. We report two patients with vascular anomalies that had an unclear clinical diagnosis most consistent with either an AVM or congenital hemangioma. Lesions were cutaneous, reddish‐purple with telang...

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Veröffentlicht in:Clinical genetics 2020-12, Vol.98 (6), p.595-597
Hauptverfasser: Sudduth, Christopher L., McGuire, Anna M., Smits, Patrick J., Konczyk, Dennis J., Al‐Ibraheemi, Alyaa, Fishman, Steven J., Greene, Arin K.
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Sprache:eng
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Zusammenfassung:Extracranial arteriovenous malformation (AVM) is most commonly caused by a somatic mutation in MAP2K1. We report two patients with vascular anomalies that had an unclear clinical diagnosis most consistent with either an AVM or congenital hemangioma. Lesions were cutaneous, reddish‐purple with telangiectasias, present at birth, and had defined borders. Histopathology indicated AVM and both lesions contained somatic KRAS mutations. A rare AVM phenotype exists that shares clinical features with congenital hemangioma. Mutant KRAS extracranial arteriovenous malformation
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13833